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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LINC00578, LINC00880
+1317 more
Copy number gain
See cases
GPathogenic
PAK2, PARL
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937828, LOC129937829
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1041 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+867 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
LOC129938004, LOC129938005
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+85 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
ALG3, CAMK2N2
+35 more
Copy number gain
See cases
GPathogenic
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